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A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis
J Genet Med 2018;15:13-16
Published online June 30, 2018;  https://doi.org/10.5734/JGM.2018.15.1.13
© 2018 Korean Society of Medical Genetics and Genomics.

Da Hyun Kim1, Sun Hee Heo2, Go Hun Seo1, Arum Oh1, Taeho Kim2, Gu-Hwan Kim2, Young Hee Yoon3, Han-Wook Yoo1,2, and Beom Hee Lee1,2,*

1Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
2Medical Genetics Center, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
3Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Beom Hee Lee, M.D., Ph.D. http://orcid.org/0000-0001-9709-2631
Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, 88 Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Korea.
Tel: +82-2-3010-5950, Fax: +82-2-473-3725, E-mail: bhlee@amc.seoul.kr
Received May 17, 2018; Revised June 8, 2018; Accepted June 8, 2018.
cc This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient’s mother is important for the genetic counseling of other family members and for the future reproductive plan. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.
Keywords : Retinoschisis, Mutation, Multiplex ligation-dependent probe amplification.


June 2018, 15 (1)
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